Confounding by Population Stratification A Guided Reading in Genetic Epidemiology Educational Objectives

نویسندگان

  • W. C. Knowler
  • R. C. Williams
  • D. J. Pettitt
چکیده

Case-control association studies are a widely used study design in genetic epidemiology. Under this method allele and/or genotype frequencies at a genetic marker are compared between cases and controls. Association studies are thought to be well suited for identifying genetic variation underlying complex traits, such as diabetes, cancer and cardiovascular disease. However, this study design is susceptible to potential confounding by population stratification.

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Matching on Race and Ethnicity in Case-Control Studies as a Means of Control for Population Stratification.

Some investigators argue that controlling for self-reported race or ethnicity, either in statistical analysis or in study design, is sufficient to mitigate unwanted influence from population stratification. In this report, we evaluated the effectiveness of a study design involving matching on self-reported ethnicity and race in minimizing bias due to population stratification within an ethnical...

متن کامل

Accounting for population stratification in DNA methylation studies.

DNA methylation is an important epigenetic mechanism that has been linked to complex diseases and is of great interest to researchers as a potential link between genome, environment, and disease. As the scale of DNA methylation association studies approaches that of genome-wide association studies, issues such as population stratification will need to be addressed. It is well-documented that fa...

متن کامل

Simple formulas for gauging the potential impacts of population stratification bias.

The case-control study design is popular for genetic association studies of complex human diseases. However, case-control studies may suffer from bias due to population stratification. In this paper, the authors present simple formulas that can set a limit to the havoc population stratification bias can wreak (the lower and upper bounds of the confounding rate ratio and the upper bound of the t...

متن کامل

Robustness of case-control studies of genetic factors to population stratification: magnitude of bias and type I error.

Case-control studies of genetic factors are prone to a special form of confounding called population stratification, whenever the existence of one or more subpopulations may lead to a false association, be it positive or negative. We quantify both the bias (in terms of confounding risk ratio) and the probability of false association (type I error) in the most unfavorable situation in which only...

متن کامل

Leveraging population information in family-based rare variant association analyses of quantitative traits.

Confounding due to population substructure is always a concern in genetic association studies. Although methods have been proposed to adjust for population stratification in the context of common variation, it is unclear how well these approaches will work when interrogating rare variation. Family-based association tests can be constructed that are robust to population stratification. For examp...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2004